Consider testing the whole family for alpha-1

When you identify a patient with alpha-1-antitrypsin (A1AT) deficiency (also known as alpha-1), you identify an entire family at risk.1,2

  • Since alpha-1 is a genetic disease, any deficient allele should prompt a discussion of testing the whole family.
  • Family testing may help reduce the risk of alpha-1 attributable lung disease for future generations.

The ATS/ERS also provide guidance for testing family members of individuals with alpha-12

  • Test siblings of individuals with alpha-1
  • Consider testing offspring, parents, or distant relatives of individuals with alpha-1
 

Why test families for alpha-1?


Alpha-1 occurs when a child inherits 1 abnormal allele from each of his/her parents.

A. If 1 parent has 2 abnormal alleles and the other parent has 2 normal alleles (eg, a Pi MM type), then the child has a 100% chance of being MZ

B. If both parents are heterozygous (1 normal M allele and 1 abnormal Z allele):

  • Children have a:
    • 25% chance of having alpha-1
    • 50% chance of being heterozygotes (MZ)
    • 25% chance of having 2 normal alleles

Alpha-1 is a genetic disorder. Consider testing the whole family

Learn more

Endogenous A1AT plays a critical role in protecting the lungs. Low levels of A1AT leave lung tissue vulnerable to destruction.3 To learn more, go Think Alpha-1

Learn more

References

  1. Campos MA, Wanner A, Zhang G, et al. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186.
  2. American Thoracic Society/European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900.
  3. Köhnlein T, Welte T. Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. Am J Med. 2008;121:3-9.

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